rs3753841

This is a variant in the COL11A1 gene that changes a proline to an leucine.

▶

GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

primary angle closure glaucoma

Khor CC et al. “Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.” Nature Genetics 48(5):556-62 (2016)
Allele G
OR 1.21
p 1.0e-23
N 26,454
Large GWAS
multi-ancestry

hip bone size

Styrkarsdottir U et al. “GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.” Nature Communications 10(1):2054 (2019)
Allele G
OR 0.07
p 1.0e-20
N 28,900
Large GWAS
multi-ancestry

hip geometry

Faber BG et al. “The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.” Human Molecular Genetics 34(3):207-217 (2025)
Allele A
OR 0.06
p 5.0e-18
N 43,485
Large GWAS
multi-ancestry

trochanter size

Styrkarsdottir U et al. “GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.” Nature Communications 10(1):2054 (2019)
Allele G
OR 0.07
p 4.0e-17
N 28,944
Large GWAS
multi-ancestry

intertrochanteric region size

Styrkarsdottir U et al. “GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.” Nature Communications 10(1):2054 (2019)
Allele G
OR 0.06
p 7.0e-13
N 28,936
Large GWAS
multi-ancestry

glaucoma

Vithana EN et al. “Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.” Nature Genetics 44(10):1142-1146 (2012)
Allele G
OR 1.20
p 9.0e-10
N 11,462
Large GWAS
multi-ancestry

carpal tunnel syndrome

Skuladottir AT et al. “A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.” Nature Communications 13(1):1598 (2022)
Allele G
OR 0.96
p 2.0e-9
N 1,239,680
Meta-analysisLarge GWAS
European
▶

ClinVar annotation

Benign★★★☆
12 submitters2 publications

Fibrochondrogenesis 1 (FBCG1); Hearing loss, autosomal dominant 37; Marshall syndrome (MRSHS); Stickler syndrome type 2 (STL2); not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations
AssociationN=890Colleen J. Saunders et al.(2013)· Journal of Orthopaedic Research

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

Traits studied:ACL ruptureAnterior cruciate ligament injuryNon-contact ACL injury
PubMedDOIMetascience Observatory

About COL11A1

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

View all COL11A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…